Conference Coverage

AAN spotlights spinal muscular atrophy clinical research


A variety of plenary and emerging science sessions at this year’s annual meeting of the American Academy of Neurology in Boston will highlight clinical research efforts to treat children with spinal muscular atrophy.

At the Hot Topics Plenary Session on April 22, Claudia A. Chiriboga, MD, of Columbia University, New York, will discuss the results of clinical trials involving antisense oligonucleotide treatments for spinal muscular atrophy (SMA), including the recently approved nusinersen (Spinraza), which promotes transcription of the full-length survival motor neuron (SMN) protein from the SMN2 gene.

In the first of two reports on new clinical research about nusinersen, Nancy L. Kuntz, MD, of Ann & Robert H. Lurie Children’s Hospital of Chicago will present the initial interim efficacy and safety findings from the phase III international ENDEAR study on April 24 at the Contemporary Clinical Issues Plenary Session. The study of 122 infants with SMA is comparing intrathecal administration of nusinersen against a sham procedure of a small needle prick on the lower back to look for differences at day 402 in the primary outcome of the percentage of patients who attain motor milestones as assessed by section 2 of the Hammersmith Infant Neurological Examination or the time to death or need for respiratory intervention. Charlotte J. Sumner, MD, of Johns Hopkins University, Baltimore, will discuss the study following Dr. Kuntz’s presentation.

The second nusinersen trial to be reported at the meeting will describe interim results of the drug’s efficacy and safety in children with later-onset SMA in the phase III CHERISH study. At the Emerging Science Platform Session on April 25, Richard S. Finkel, MD, of Nemours Children’s Hospital in Orlando, Fla., will discuss how the primary outcome of the Hammersmith Functional Motor Scale–Expanded score changed from baseline to 15 months following intrathecal injection or a sham procedure in children aged 2-12 years.

An investigational SMA type 1 treatment just beginning testing in clinical trials will also receive attention in a plenary session and a platform session. In the Clinical Trials Plenary Session on April 25, Jerry R. Mendell, MD, of Nationwide Children’s Hospital, Columbus, Ohio, will report on the first gene therapy trial for SMA type 1, a phase I trial of AVXS-101, which delivers the SMN gene in a AAV9 viral vector that is able to cross the blood-brain barrier. The primary objective of the trial is to assess safety of a single intravenous dose. The secondary objectives include survival (avoidance of death/permanent-ventilation) and the ability to sit unassisted. Other analyses of data from the phase I trial will be reported during the “Motor Neuron Diseases: Biomarkers, Outcome Measures, and Therapeutics,” platform session on April 24, including the evaluation of preexisting anti-AAV9 antibodies and the proportion of patients who achieve CHOP-INTEND scores of 50 and above and sit unassisted.

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